The accumulation of misfolded proteins in the endoplasmic reticulum (ER) leads to ER
stress, resulting in activation of the unfolded protein response (UPR) that aims to restore …

Lysosomes are membrane-bound organelles with roles in processes involved in degrading
and recycling cellular waste, cellular signalling and energy metabolism. Defects in genes …

Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA
gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life …

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important
cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural …

Lysosomal storage diseases are a group of metabolic disorders caused by deficiencies of
several components of lysosomal function. Most commonly affected are lysosomal …

For the past three decades, the use of genomics to inform drug discovery and development
pipelines has generated both excitement and scepticism. Although earlier efforts …

Background Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency,
leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic …

Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by pathogenic
variants in the α‐galactosidase A (GLA) gene that leads to reduced or undetectable α …

Lysosomal storage disorders (LSDs)—designated as' orphan'diseases—are inborn errors of
metabolism caused by defects in genes that encode proteins involved in various aspects of …